{ "uniprot_canonical_ac": "O43278-1", "uniprot_ac": "O43278", "uniprot_id": "SPIT1_HUMAN", "mass": { "chemical_mass": 58398.0, "monoisotopic_mass": 58398.0 }, "refseq": { "ac": "NP_001027539", "name": "kunitz-type protease inhibitor 1 isoform 2 precursor", "summary": "The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539" }, "gene_names": [ { "name": "SPINT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43278", "id": "O43278" }, { "name": "HAI1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43278", "id": "O43278" }, { "name": "HAI; HAI1; MANSC2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539", "id": "NP_001027539" }, { "name": "PRO256", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43278", "id": "O43278" }, { "name": "SPINT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539", "id": "NP_001027539" } ], "protein_names": [ { "name": "Kunitz-type protease inhibitor 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43278" }, { "name": "HAI-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43278" }, { "name": "Hepatocyte growth factor activator inhibitor type 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43278" }, { "name": "kunitz-type protease inhibitor 1 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539", "id": "NP_001027539" }, { "name": "serine protease inhibitor, Kunitz type 1; Kunitz-type protease inhibitor 1; HAI-1; hepatocyte growth factor activator inhibitor type 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539", "id": "NP_001027539" } ], "function": [ { "annotation": "Comprehensive Analysis of the Expression and Prognostic Value of SPINT1/2 in Breast Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001027539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539" }, { "database": "PubMed", "id": "34381422", "url": "https://glygen.org/publication/PubMed/34381422" } ] }, { "annotation": "HAI-1 is an independent predictor of lung cancer mortality and is required for M1 macrophage polarization. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001027539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539" }, { "database": "PubMed", "id": "34185790", "url": "https://glygen.org/publication/PubMed/34185790" } ] }, { "annotation": "HAI-1 is required for the novel role of FGFBP1 in maintenance of cell morphology and F-actin rearrangement in human keratinocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001027539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539" }, { "database": "PubMed", "id": "37076641", "url": "https://glygen.org/publication/PubMed/37076641" } ] }, { "annotation": "Inhibitor of HGFAC (PubMed:9045658). Inhibits serine protease activity of ST14/matriptase in vitro (PubMed:28710277). Inhibits serine protease activity of TMPRSS13, via the BPTI/Kunitz inhibitor 1 domain (PubMed:20977675).", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278#function" }, { "database": "PubMed", "id": "9045658", "url": "https://glygen.org/publication/PubMed/9045658" }, { "database": "PubMed", "id": "20977675", "url": "https://glygen.org/publication/PubMed/20977675" }, { "database": "PubMed", "id": "28710277", "url": "https://glygen.org/publication/PubMed/28710277" } ] }, { "annotation": "Insufficiency of hepatocyte growth factor activator inhibitor-1 confers lymphatic invasion of tongue carcinoma cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001027539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539" }, { "database": "PubMed", "id": "35332604", "url": "https://glygen.org/publication/PubMed/35332604" } ] }, { "annotation": "Role of the polycystic kidney disease domain in matriptase chaperone activity and localization of hepatocyte growth factor activator inhibitor-1. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001027539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539" }, { "database": "PubMed", "id": "35020274", "url": "https://glygen.org/publication/PubMed/35020274" } ] }, { "annotation": "The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001027539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs200268560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200268560" }, { "id": "rs200268560", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200268560" }, { "id": "rs200268560", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200268560" }, { "id": "rs200268560", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200268560#frequency_tab" }, { "id": "rs200268560", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200268560" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 235, "end_pos": 235, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: 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"minor_allelic_frequency": "", "site_lbl": "T237", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1596152502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1596152502" }, { "id": "rs1596152502", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1596152502" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 290, "end_pos": 290, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNY->NNS).", "chr_id": "15", "chr_pos": "40853837", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y290", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1415664071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1415664071" }, { "id": "rs1415664071", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1415664071" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 312, "end_pos": 312, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "15", "chr_pos": "40853902", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1555388755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555388755" }, { "id": "rs1555388755", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1555388755" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 317, "end_pos": 317, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "40853918", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T317", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1402737929", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1402737929" }, { "id": "rs1402737929", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1402737929" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 323, "end_pos": 323, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "15", "chr_pos": "40854066", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S323", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs553814273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553814273" }, { "id": "rs553814273", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs553814273" }, { "id": "rs553814273", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs553814273" }, { "id": "rs553814273", "database": "TOPMed", "url": 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"url": "https://www.ncbi.nlm.nih.gov/snp/rs199960318#frequency_tab" }, { "id": "rs199960318", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs199960318" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 373, "end_pos": 373, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "15", "chr_pos": "40854642", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T373", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43278", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43278" }, { "id": "rs199960318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs199960318" }, { "id": "rs199960318", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs199960318" }, { "id": "rs199960318", "database": "ExAC", "url": 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"description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43278", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43278" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43278", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43278" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43278", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43278" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "common_name": "Human" } ], "gene": [ { "name": "SPINT1", "url": "https://www.uniprot.org/uniprot/O43278", "locus": { "chromosome": "15", "start_pos": 40858207, "end_pos": 40844018, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000166145", "url": "https://www.ensembl.org/id/ENSG00000166145" } ] } } ], "crossref": [ { "id": "ENSG00000166145", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000166145", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43278", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43278", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00112", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00112", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22623", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22623", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd22624", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22624", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SPINT1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SPINT1", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "6692", "url": "https://www.ncbi.nlm.nih.gov/gene/6692", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "11246", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11246", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43278", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43278*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR002172", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002172", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002223", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002223", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011106", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011106", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013980", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013980", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020901", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020901", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023415", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023415", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036055", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036055", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036880", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036880", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6692", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6692", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605123", "url": "http://www.omim.org/entry/605123", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43278", "url": "https://www.nextprot.org/entry/NX_O43278", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "CDETLDC", "url": "https://omabrowser.org/oma/group/CDETLDC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2909633at2759", "url": "http://www.orthodb.org/?query=2909633at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46750", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46750", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46750:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46750:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1YC0", "url": "https://www.rcsb.org/structure/1YC0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2MSX", "url": "https://www.rcsb.org/structure/2MSX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ISL", "url": "https://www.rcsb.org/structure/4ISL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ISN", "url": "https://www.rcsb.org/structure/4ISN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ISO", "url": "https://www.rcsb.org/structure/4ISO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5EZD", "url": "https://www.rcsb.org/structure/5EZD", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5H7V", "url": "https://www.rcsb.org/structure/5H7V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00014", "url": "http://pfam.xfam.org/family/PF00014", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00057", "url": "http://pfam.xfam.org/family/PF00057", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07502", "url": "http://pfam.xfam.org/family/PF07502", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43278", "url": "https://pharos.nih.gov/targets/O43278", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050737", "url": "https://proconsortium.org/app/entry/PR:000050737", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050738", "url": "https://proconsortium.org/app/entry/PR:000050738", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050739", "url": "https://proconsortium.org/app/entry/PR:000050739", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O43278", "url": "http://purl.obolibrary.org/obo/PR_O43278", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001027539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027539", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O43278", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "H3BMB6", "url": "https://www.uniprot.org/uniprot/H3BMB6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BMB6-1", "url": "https://www.uniprot.org/uniprot/H3BMB6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNW5", "url": "https://www.uniprot.org/uniprot/H3BNW5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNW5-1", "url": "https://www.uniprot.org/uniprot/H3BNW5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR01", "url": "https://www.uniprot.org/uniprot/H3BR01", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BR01-1", "url": "https://www.uniprot.org/uniprot/H3BR01-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSM2", "url": "https://www.uniprot.org/uniprot/H3BSM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BSM2-1", "url": "https://www.uniprot.org/uniprot/H3BSM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTQ8", "url": "https://www.uniprot.org/uniprot/H3BTQ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BTQ8-1", "url": "https://www.uniprot.org/uniprot/H3BTQ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVD9", "url": "https://www.uniprot.org/uniprot/H3BVD9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BVD9-1", "url": "https://www.uniprot.org/uniprot/H3BVD9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43278-1", "url": "https://www.uniprot.org/uniprot/O43278-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43278-2", "url": "https://www.uniprot.org/uniprot/O43278-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAPARTMARARLAPAGIPAVALWLLCTLGLQGTQAGPPPAPPGLPAGADCLNSFTAGVPGFVLDTNASVSNGATFLESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLINCLYEQNFVCKFAPREGFINYLTREVYRSYRQLRTQGFGGSGIPKAWAGIDLKVQPQEPLVLKDVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILACRGVQGGPLRGSSGAQATFPQGPSMERRHPVCSGTCQPTQFRCSNGCCIDSFLECDDTPNCPDASDEAACEKYTSGFDELQRIHFPSDKGHCVDLPDTGLCKESIPRWYYNPFSEHCARFTYGGCYGNKNNFEEEQQCLESCRGISKKDVFGLRREIPIPSTGSVEMAVAVFLVICIVVVVAILGYCFFKNQRKDFHGHHHHPPPTPASSTVSTTEDTEHLVYNHTTRPL", "length": 529, "header": "sp|O43278-1|SPIT1_HUMAN Isoform 1 of Kunitz-type protease inhibitor 1 OS=Homo sapiens OX=9606 GN=SPINT1 PE=1 SV=2 CANONICAL=O43278-1" }, "isoforms": [ { "isoform_ac": "H3BMB6-1", "url": "", "sequence": { "sequence": "ELWGLKEGTYLFQLTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILACRGVQVCSGTCQPTQFRCSNGCCIDSFLECDDTPNCPDASDEAACEKYTSGFDELQRIHFPSDKGHCVDLPDTGLCKESIPRWYYNPFSEHCARFTYGGCYGNKNNFEEEQQCLESCRGISKKDVFGLRREIPIPSTGSVEMAVAVFLVICIVVVVAILGYCFFKNQRKDFHGHHHHPPPTPASSTVSTTEDTEHLVYNHTTR", "length": 294, "header": "tr|H3BMB6-1|H3BMB6_HUMAN Computationally mapped isoform of Serine peptidase inhibitor, Kunitz type 1 OS=Homo sapiens OX=9606 GN=SPINT1 PE=1 SV=1 CANONICAL=O43278-1" }, "locus": { "chromosome": "15", "start_pos": 40856966, "end_pos": 40853510, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564375.5", "url": "https://www.ensembl.org/id/ENST00000564375.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454315.1", "url": "https://www.ensembl.org/id/ENSP00000454315.1" } ] } }, { "isoform_ac": "H3BNW5-1", "url": "", "sequence": { "sequence": "XLGNKNNYLREEECILACRGVQGGPLRGSSGAQATFPQGPSMERRHPDTSGFDELQRIHFPSDKGHCVDLPDTGLCKESIPRWYYNPFSEHCARFTYGGCYGNKNNFEEEQQCLESCRGISKKDVFGLRREIPIPSTGSVEMAVAVFLVICIVVVVAILGYCFFKNQRKDFHGHHHHPPPTPASSTVSTTEDTEHLVYNHTTRP", "length": 204, "header": "tr|H3BNW5-1|SPIT1_HUMAN Computationally mapped isoform of Kunitz-type protease inhibitor 1 OS=Homo sapiens OX=9606 GN=SPINT1 PE=1 SV=1 CANONICAL=O43278-1" }, "locus": { "chromosome": "15", "start_pos": 40856969, "end_pos": 40853816, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000569589.1", "url": "https://www.ensembl.org/id/ENST00000569589.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000455038.1", "url": "https://www.ensembl.org/id/ENSP00000455038.1" } ] } }, { "isoform_ac": "H3BR01-1", "url": "", "sequence": { "sequence": "XVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILACRGVQGPSMERRHPDTSGFDELQRIHFPSDKGHCVDLPDTGLCKESIPRWYYNPFSEHCARFTYGGCYGNKNNFEEEQQCLESCRGISKKDVFGLRREIPIPSTGSVEMAVAVFLVICIVVVV", "length": 240, "header": "tr|H3BR01-1|SPIT1_HUMAN Computationally mapped isoform of Kunitz-type protease inhibitor 1 OS=Homo sapiens OX=9606 GN=SPINT1 PE=1 SV=1 CANONICAL=O43278-1" }, "locus": { "chromosome": "15", "start_pos": 40856826, "end_pos": 40853196, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000566928.5", "url": "https://www.ensembl.org/id/ENST00000566928.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456015.1", "url": "https://www.ensembl.org/id/ENSP00000456015.1" } ] } }, { "isoform_ac": "H3BSM2-1", "url": "", "sequence": { "sequence": "XEKAAEPQLSEHRVGSRDPSRAGSWDRNLGGPGPTQLTCAGHQHPRNPEARALKVTPLGRKAMAPARTMARARLAPAGIPAVALWLLCTLGLQGTQAGPPPAPPGLPAGADCLNSFTAGVPGFVLDTNASVSNGATFLESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLINCLYEQNFVCKFAPREGFINYLTREVYRSYRQLRTQGFGGSGIPKAWAGIDLKVQPQEPLVLKDVENTDWRLLRGDTDVRVELTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPT", "length": 313, "header": "tr|H3BSM2-1|H3BSM2_HUMAN Computationally mapped isoform of Serine peptidase inhibitor, Kunitz type 1 OS=Homo sapiens OX=9606 GN=SPINT1 PE=1 SV=1 CANONICAL=O43278-1" }, "locus": { "chromosome": "15", "start_pos": 40853782, "end_pos": 40844067, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568823.5", "url": "https://www.ensembl.org/id/ENST00000568823.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456769.1", "url": "https://www.ensembl.org/id/ENSP00000456769.1" } ] } }, { "isoform_ac": "H3BTQ8-1", "url": "", "sequence": { "sequence": "MAPARTMARARLAPAGIPAVALWLLCTLGLQGTQAGPPPAPPGLPAGADCLNSFTAGVPGFVLDTNASVSNGATFLESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLINCLYEQNFVCKFAPREGFINYLTREVYRSYRQLRTQGFGGSGIPKAWAGIDLKVQPQEPLVLKDVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILACR", "length": 301, "header": "tr|H3BTQ8-1|SPIT1_HUMAN Computationally mapped isoform of Kunitz-type protease inhibitor 1 OS=Homo sapiens OX=9606 GN=SPINT1 PE=1 SV=8 CANONICAL=O43278-1" }, "locus": { "chromosome": "15", "start_pos": 40853871, "end_pos": 40844555, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563656.5", "url": "https://www.ensembl.org/id/ENST00000563656.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457284.1", "url": "https://www.ensembl.org/id/ENSP00000457284.1" } ] } }, { "isoform_ac": "H3BVD9-1", "url": "", "sequence": { "sequence": "PPGLPAGADCLNSFTAGVPGFVLDTNASVSNGATFLESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLINCLYEQNFVCKFAPREGFINYLTREVYRSYRQLRTQGFGGSGIPKAWAGIDLKVQPQEPLVLKDVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILACRGVQGGPLRGSSGAQATFPQVCSGTCQPTQFRCSNGCCIDSFLECDDTPNCPDASDEAACEKYTSGFDELQRIHFPSDKGHCVDLPDTGLCKESIPRWYYNPFSEHCARFTYGGCYGNKNNFEEEQQCLESCRGISKKDVFGLRREIPIPSTGSVEMAVAVFLVICIVVVVAILGYCFFKNQRKDFHGHHHHPPPTPASSTVSTTEDTEHLV", "length": 472, "header": "tr|H3BVD9-1|SPIT1_HUMAN Computationally mapped isoform of Kunitz-type protease inhibitor 1 OS=Homo sapiens OX=9606 GN=SPINT1 PE=1 SV=1 CANONICAL=O43278-1" }, "locus": { "chromosome": "15", "start_pos": 40856948, "end_pos": 40844675, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568580.5", "url": "https://www.ensembl.org/id/ENST00000568580.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000458074.1", "url": "https://www.ensembl.org/id/ENSP00000458074.1" } ] } }, { "isoform_ac": "O43278-1", "url": "", "sequence": { "sequence": "MAPARTMARARLAPAGIPAVALWLLCTLGLQGTQAGPPPAPPGLPAGADCLNSFTAGVPGFVLDTNASVSNGATFLESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLINCLYEQNFVCKFAPREGFINYLTREVYRSYRQLRTQGFGGSGIPKAWAGIDLKVQPQEPLVLKDVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILACRGVQGGPLRGSSGAQATFPQGPSMERRHPVCSGTCQPTQFRCSNGCCIDSFLECDDTPNCPDASDEAACEKYTSGFDELQRIHFPSDKGHCVDLPDTGLCKESIPRWYYNPFSEHCARFTYGGCYGNKNNFEEEQQCLESCRGISKKDVFGLRREIPIPSTGSVEMAVAVFLVICIVVVVAILGYCFFKNQRKDFHGHHHHPPPTPASSTVSTTEDTEHLVYNHTTRPL", "length": 529, "header": "sp|O43278-1|SPIT1_HUMAN Isoform 1 of Kunitz-type protease inhibitor 1 OS=Homo sapiens OX=9606 GN=SPINT1 PE=1 SV=2 CANONICAL=O43278-1" }, "locus": { "chromosome": "15", "start_pos": 40856972, "end_pos": 40844555, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000344051.8", "url": "https://www.ensembl.org/id/ENST00000344051.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000342098.4", "url": "https://www.ensembl.org/id/ENSP00000342098.4" } ] } }, { "isoform_ac": "O43278-2", "url": "", "sequence": { "sequence": "MAPARTMARARLAPAGIPAVALWLLCTLGLQGTQAGPPPAPPGLPAGADCLNSFTAGVPGFVLDTNASVSNGATFLESPTVRRGWDCVRACCTTQNCNLALVELQPDRGEDAIAACFLINCLYEQNFVCKFAPREGFINYLTREVYRSYRQLRTQGFGGSGIPKAWAGIDLKVQPQEPLVLKDVENTDWRLLRGDTDVRVERKDPNQVELWGLKEGTYLFQLTVTSSDHPEDTANVTVTVLSTKQTEDYCLASNKVGRCRGSFPRWYYDPTEQICKSFVYGGCLGNKNNYLREEECILACRGVQGPSMERRHPVCSGTCQPTQFRCSNGCCIDSFLECDDTPNCPDASDEAACEKYTSGFDELQRIHFPSDKGHCVDLPDTGLCKESIPRWYYNPFSEHCARFTYGGCYGNKNNFEEEQQCLESCRGISKKDVFGLRREIPIPSTGSVEMAVAVFLVICIVVVVAILGYCFFKNQRKDFHGHHHHPPPTPASSTVSTTEDTEHLVYNHTTRPL", "length": 513, "header": "sp|O43278-2|SPIT1_HUMAN Isoform 2 of Kunitz-type protease inhibitor 1 OS=Homo sapiens OX=9606 GN=SPINT1 PE=1 SV=2 CANONICAL=O43278-1" }, "locus": { "chromosome": "15", "start_pos": 40856972, "end_pos": 40844555, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000562057.6", "url": "https://www.ensembl.org/id/ENST00000562057.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000457076.1", "url": "https://www.ensembl.org/id/ENSP00000457076.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 235, "start_aa": "Asn", "end_pos": 235, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn235", "evidence": [ { "id": "O43278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43278#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "GSSGAQATFPQGPSMER", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 310, "start_aa": "Gly", "end_pos": 326, "end_aa": "Arg", "evidence": [ { "id": "O43278", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 312, "start_aa": "Ser", "end_pos": 312, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser312", "evidence": [ { "id": "O43278", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 317, "start_aa": "Thr", "end_pos": 317, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr317", "evidence": [ { "id": "O43278", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 323, "start_aa": "Ser", "end_pos": 323, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser323", "evidence": [ { "id": "O43278", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "HPVCSGTCQPTQFR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 328, "start_aa": "His", "end_pos": 341, "end_aa": "Arg", "evidence": [ { "id": "O43278", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 334, "start_aa": "Thr", "end_pos": 334, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr334", "evidence": [ { "id": "O43278", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "G43417UB", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "", "start_pos": 373, "start_aa": "Thr", "end_pos": 373, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr373", "evidence": [ { "id": "O43278", "database": "UniCarbKB", "url": "" }, { "id": "30459171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 523, "start_aa": "Asn", "end_pos": 523, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn523", "evidence": [ { "id": "O43278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43278#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 66, "start_aa": "Asn", "end_pos": 66, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn66", "evidence": [ { "id": "O43278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43278#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 277, "end_pos": 277, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43278", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O43278", "url": "http://phospho.elm.eu.org/byAccession/O43278.html" } ], "site_lbl": "Ser277" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O43278", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Probing the O-Glycoproteome of Gastric Cancer Cell Lines for Biomarker Discovery", "journal": "Molecular & Cellular Proteomics", "date": "2015", "authors": "Campos D., Freitas D., Gomes J., Magalh\u00e3es A., Steentoft C., Gomes C., Vester-Christensen M. B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O43278", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Purification and characterization of a complex containing matriptase and a Kunitz-type serine protease inhibitor from human milk.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Lin C Y, Anders J, Johnson M, Dickson R B", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "reference": [ { "type": "PubMed", "id": "10373425", "url": "https://glygen.org/publication/PubMed/10373425" } ] }, { "title": "Hypoxia promotes invasive growth by transcriptional activation of the met protooncogene.", "journal": "Cancer cell", "date": "2003", "authors": "Pennacchietti S, Michieli P, Galluzzo M, Mazzone M, Giordano S, Comoglio PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "12726861", "url": "https://glygen.org/publication/PubMed/12726861" } ] }, { "title": "A functional domain in the heavy chain of scatter factor/hepatocyte growth factor binds the c-Met receptor and induces cell dissociation but not mitogenesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Hartmann G, Naldini L, Weidner KM, Sachs M, Vigna E, Comoglio PM, Birchmeier W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "1280830", "url": "https://glygen.org/publication/PubMed/1280830" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Crystal structure of the HGF beta-chain in complex with the Sema domain of the Met receptor.", "journal": "The EMBO journal", "date": "2004", "authors": "Stamos J, Lazarus RA, Yao X, Kirchhofer D, Wiesmann C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15167892", "url": "https://glygen.org/publication/PubMed/15167892" } ] }, { "title": "Structural and functional basis of the serine protease-like hepatocyte growth factor beta-chain in Met binding and signaling.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kirchhofer D, Yao X, Peek M, Eigenbrot C, Lipari MT, Billeci KL, Maun HR, Moran P, Santell L, Wiesmann C, Lazarus RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15218027", "url": "https://glygen.org/publication/PubMed/15218027" } ] }, { "title": "Oligomerization-dependent changes in the thermodynamic properties of the TPR-MET receptor tyrosine kinase.", "journal": "Biochemistry", "date": "2004", "authors": "Hays JL, Watowich SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15301554", "url": "https://glygen.org/publication/PubMed/15301554" } ] }, { "title": "Hepsin promotes prostate cancer progression and metastasis.", "journal": "Cancer cell", "date": "2004", "authors": "Klezovitch O, Chevillet J, Mirosevich J, Roberts RL, Matusik RJ, Vasioukhin V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15324701", "url": "https://glygen.org/publication/PubMed/15324701" } ] }, { "title": "Signal peptide prediction based on analysis of experimentally verified cleavage sites.", "journal": "Protein Sci.", "date": "2004", "authors": "Zhang Z, Henzel WJ", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "reference": [ { "type": "PubMed", "id": "15340161", "url": "https://glygen.org/publication/PubMed/15340161" } ] }, { "title": "The C terminus of RON tyrosine kinase plays an autoinhibitory role.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Yokoyama N, Ischenko I, Hayman MJ, Miller WT", "evidence": [ { "database": "Reactome", "id": 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Mol. Biol.", "date": "2005", "authors": "Shia S, Stamos J, Kirchhofer D, Fan B, Wu J, Corpuz RT, Santell L, Lazarus RA, Eigenbrot C", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" }, { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15713485", "url": "https://glygen.org/publication/PubMed/15713485" } ] }, { "title": "Hepsin activates pro-hepatocyte growth factor and is inhibited by hepatocyte growth factor activator inhibitor-1B (HAI-1B) and HAI-2.", "journal": "FEBS letters", "date": "2005", "authors": "Kirchhofer D, Peek M, Lipari MT, Billeci K, Fan B, Moran P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "15792801", "url": "https://glygen.org/publication/PubMed/15792801" } ] }, { "title": "Structural basis of hepatocyte growth factor/scatter factor and MET signalling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Gherardi E, Sandin S, Petoukhov MV, Finch J, Youles ME, Ofverstedt LG, Miguel RN, Blundell TL, Vande Woude GF, Skoglund U, Svergun DI", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "16537482", "url": "https://glygen.org/publication/PubMed/16537482" } ] }, { "title": "Identification of the major autophosphorylation site of the Met/hepatocyte growth factor receptor tyrosine kinase.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Ferracini R, Longati P, Naldini L, Vigna E, Comoglio PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "1655790", "url": "https://glygen.org/publication/PubMed/1655790" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O43278-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43278-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Hepsin, a cell membrane-associated protease. Characterization, tissue distribution, and gene localization.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Tsuji A, Torres-Rosado A, Arai T, Le Beau MM, Lemons RS, Chou SH, Kurachi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6806942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6806942" } ], "reference": [ { "type": "PubMed", "id": "1885621", "url": "https://glygen.org/publication/PubMed/1885621" } ] }, { "title": "Genome-wide association identifies multiple ulcerative colitis susceptibility loci.", "journal": "Nature genetics", "date": "2010", "authors": "McGovern DP, Gardet A, Torkvist L, Goyette P, Essers J, Taylor KD, Neale BM, Ong RT, Lagace C, Li C, Green T, Stevens CR, Beauchamp C, Fleshner PR, Carlson M, D'Amato M, Halfvarson J, Hibberd ML, Lordal M, Padyukov L, Andriulli A, Colombo E, Latiano A, Palmieri O, Bernard EJ, Deslandres C, Hommes DW, de Jong DJ, Stokkers PC, Weersma RK, Sharma Y, Silverberg MS, Cho JH, Wu J, Roeder K, Brant SR, Schumm LP, Duerr RH, Dubinsky MC, Glazer NL, Haritunians T, Ippoliti A, Melmed GY, Siscovick DS, Vasiliauskas EA, Targan SR, Annese V, Wijmenga C, Pettersson S, Rotter JI, Xavier RJ, Daly MJ, Rioux JD, Seielstad M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "20228799", "url": "https://glygen.org/publication/PubMed/20228799" } ] }, { "title": "The macrophage stimulating protein/Ron pathway as a potential therapeutic target to impede multiple mechanisms involved in breast cancer progression.", "journal": "Current drug targets", "date": "2010", "authors": "Kretschmann KL, Eyob H, Buys SS, Welm AL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "20545605", "url": "https://glygen.org/publication/PubMed/20545605" } ] }, { "title": "The crystal structure of a constitutively active mutant RON kinase suggests an intramolecular autophosphorylation hypothesis.", "journal": "Biochemistry", "date": "2010", "authors": "Wang J, Steinbacher S, Augustin M, Schreiner P, Epstein D, Mulvihill MJ, Crew AP", "evidence": [ { "database": "Reactome", "id": "R-HSA-8852405", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8852405" } ], "reference": [ { "type": "PubMed", "id": "20726546", "url": "https://glygen.org/publication/PubMed/20726546" } ] }, { "title": "TMPRSS13, a type II transmembrane serine protease, is inhibited by hepatocyte growth factor activator inhibitor type 1 and activates pro-hepatocyte growth factor.", "journal": "The FEBS journal", "date": "2010", "authors": "Hashimoto T, Kato M, Shimomura T, Kitamura N", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "reference": [ { "type": "PubMed", "id": "20977675", "url": 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"name": "epithelium development", "id": "GO:0060429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060429", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "pmid": "" }, { "name": "positive regulation of glial cell differentiation", "id": "GO:0045687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045687", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "pmid": "" }, { "name": "neural 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regulation of neural precursor cell proliferation", "id": "GO:2000178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000178", "evidence": [ { "database": "UniProtKB", "id": "O43278", "url": "https://www.uniprot.org/uniprot/O43278" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "Kunitz-type protease inhibitor 1 O-glycosylated 1 (human)", "definition": "A Kunitz-type protease inhibitor 1 (human) that has been O-glycosylated at the residue equivalent to Thr-317 of the amino acid sequence represented by UniProtKB:O43278-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O43278-1, Thr-317, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050737", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050737" } ] }, { "name": "Kunitz-type protease inhibitor 1 O-glycosylated 2 (human)", "definition": "A Kunitz-type protease inhibitor 1 (human) that has been O-glycosylated at the residue equivalent to Thr-334 of the amino acid sequence represented by UniProtKB:O43278-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O43278-1, Thr-334, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050738", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050738" } ] }, { "name": "Kunitz-type protease inhibitor 1 O-glycosylated 3 (human)", "definition": "A Kunitz-type protease inhibitor 1 (human) that has been O-glycosylated at the residue equivalent to Thr-373 of the amino acid sequence represented by UniProtKB:O43278-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O43278-1, Thr-373, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050739", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050739" } ] } ], "site_annotation": [ { "start_pos": 235, "end_pos": 237, "annotation": "n_glycosylation_sequon" }, { "start_pos": 523, "end_pos": 525, "annotation": "n_glycosylation_sequon" }, { "start_pos": 66, "end_pos": 68, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 66, 235, 523 ], "o_linked_sites": [ 310, 312, 317, 323, 328, 334, 373 ], "snv_sites": [ 66, 68, 73, 235, 237, 290, 312, 317, 323, 362, 373, 431 ], "glycation_sites": [], "phosphorylation_sites": [ 277 ], "sequon_annotation_sites": [ { "start_pos": 235, "end_pos": 237 }, { "start_pos": 523, "end_pos": 525 }, { "start_pos": 66, "end_pos": 68 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 9 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 2 }, { "field": "o_linked_glycan_sites", "count": 6 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 12 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 11 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 49 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }